Linked Data
dbSNP Id:
rs373638535
ExAC:
11:47372961 G / T
gnomAD v2:
11-47372961-G-T
gnomAD v3:
11-47351410-G-T
gnomAD v4:
11-47351410-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47351410G>T , CM000673.2:g.47351410G>T | GRCh38 |
| NC_000011.9:g.47372961G>T , CM000673.1:g.47372961G>T | GRCh37 |
| NC_000011.8:g.47329537G>T | NCBI36 |
| NG_007667.1:g.6293C>A , LRG_386:g.6293C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.121C>A MANE Select | ENSP00000442795.1:p.Arg41Ser | |
| ENST00000256993.8:c.121C>A | ENSP00000256993.5:p.Arg41Ser | |
| ENST00000399249.6:c.121C>A | ENSP00000382193.2:p.Arg41Ser | |
| ENST00000544791.1:c.121C>A | ENSP00000444259.1:p.Arg41Ser | |
| ENST00000545968.5:c.121C>A | ENSP00000442795.1:p.Arg41Ser | |
| NM_000256.3:c.121C>A , LRG_386t1:c.121C>A MANE Select | NP_000247.2:p.Arg41Ser | |
| XM_011520117.1:c.121C>A | XP_011518419.1:p.Arg41Ser | |
| XM_011520118.1:c.121C>A | XP_011518420.1:p.Arg41Ser |